Canonical Allele Identifier: CA4105675

Gene: ERMARD

Linked Data

• ClinVar Variation Id: 386762
• ClinVar RCV Id: RCV001704347
• dbSNP Id: rs773523861
• ExAC: 6:170151725 A / T
• gnomAD v2: 6-170151725-A-T
• gnomAD v3: 6-169751629-A-T
• gnomAD v4: 6-169751629-A-T
• MyVariant Identifiers: chr6:g.170151725A>T (hg19) ; chr6:g.169751629A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.169751629A>T , CM000668.2:g.169751629A>T	GRCh38
NC_000006.11:g.170151725A>T , CM000668.1:g.170151725A>T	GRCh37
NC_000006.10:g.169893650A>T	NCBI36
NG_033842.1:g.5008A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366773.8:c.-29A>T MANE Select	ENSP00000355735.3:n.-29A>T
ENST00000366772.6:c.-29A>T	ENSP00000355734.1:n.-29A>T
ENST00000366773.7:c.-29A>T	ENSP00000355735.3:n.-29A>T
ENST00000392095.8:c.-238A>T	ENSP00000375945.4:n.-238A>T
ENST00000590711.5:c.-327A>T	ENSP00000466474.1:n.-327A>T
ENST00000592315.5:c.-29A>T	ENSP00000467582.1:n.-29A>T
ENST00000592367.5:c.-488A>T	ENSP00000468722.1:n.-488A>T
ENST00000592745.5:c.-463A>T	ENSP00000466679.1:n.-463A>T
NM_001278531.1:c.-29A>T	NP_001265460.1:n.-29A>T
NM_001278532.1:c.-238A>T	NP_001265461.1:n.-238A>T
NM_001278533.1:c.-29A>T	NP_001265462.1:n.-29A>T
NM_018341.2:c.-29A>T	NP_060811.1:n.-29A>T
XM_011535938.1:c.-29A>T	XP_011534240.1:n.-29A>T
XR_942506.1:n.8A>T
XR_942508.1:n.8A>T
XM_011535938.3:c.-29A>T	XP_011534240.1:n.-29A>T
XM_024446486.1:c.-402A>T	XP_024302254.1:n.-402A>T
XM_024446487.1:c.-402A>T	XP_024302255.1:n.-402A>T
XR_942506.2:n.5A>T
XR_942508.3:n.5A>T
NM_018341.3:c.-29A>T MANE Select	NP_060811.1:n.-29A>T
NM_001278531.2:c.-29A>T	NP_001265460.1:n.-29A>T
NM_001278532.2:c.-238A>T	NP_001265461.1:n.-238A>T
NM_001278533.2:c.-29A>T	NP_001265462.1:n.-29A>T